Results 91 to 100 of about 2,125,068 (305)

Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism [PDF]

, 2013
A trans-National Institutes of Health initiative, Nutrition and Dietary Supplement Interventions for Inborn Errors of Metabolism (NDSI-IEM), was launched in 2010 to identify gaps in knowledge regarding the safety and utility of nutritional interventions ...
Groft, Stephen C., Enns, Gregory M., Parisi, Melissa A, Cederbaum, Stephen, Camp, Kathryn M, Frazier, Dianne M., Howell, R. Rodney, Gohagan, John, Coates, Paul M., Yao, Lynne, Lloyd-Puryear, Michele A, Groft, Stephen C, Venditti, Charles, Coates, Paul M, Vockley, Jerry, Lloyd-Puryear, Michele A., Ershow, Abby G., Mulberg, Andrew, Frazier, Dianne M, Regan, Karen, Ershow, Abby G, Camp, Kathryn M., Harding, Cary, Watson, Michael, Parisi, Melissa A., Gopal-Srivastava, Rashmi, Stacpoole, Peter W., Stacpoole, Peter W, Enns, Gregory M   +28 more
core   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Cardiac manifestations of inborn errors of metabolism.

, 2007
Item does not contain fulltextAIM: The aim of the study was to investigate the frequency and type of cardiac manifestations in a defined group of patients with inborn errors of metabolism.
Daphnis, E., Varlamis, G., Ganotakis, E., Michailidou, H., Evangeliou, A., Papadopoulou-Legbelou, K., Hitoglou-Makedou, A., Nicolaidou, P., Vavouranakis, I., Wevers, R.A.   +9 more
core  

Finding My Path: Listening, Learning, and Leading in Rare Disease: The 2025 Hower Award

Annals of the Child Neurology Society, EarlyView.
Andrea Gropman
wiley   +1 more source

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +1 more source

Prenatal betamethasone–postnatal N‐methyl‐D‐aspartic acid model of spasms: Update on mechanisms and treatments

Epilepsia Open, EarlyView.
Abstract Infantile epilepsy spasms syndrome (IESS), formerly known as infantile spasms or West Syndrome, is a severe epilepsy syndrome affecting about 3 in 10,000 newborns in the United States. Characterized by clusters of epileptic spasms, interictal hypsarrhythmia, and developmental delays, IESS has diverse causes, including structural‐metabolic ...
Kayla Vieira, Antonia Schonwald, Chian‐Ru Chern, Kamya Shah, Jana Velíšková, Libor Velíšek   +5 more
wiley   +1 more source

Autism spectrum-related symptoms and clinical ASD diagnoses in children and adolescents with classical galactosemia: a descriptive clinical cohort study

Frontiers in Psychiatry
BackgroundClassical galactosemia (CG) is a rare inherited metabolic disorder associated with long-term neurodevelopmental, language, cognitive and psychosocial difficulties.
Aleksandra Gozdanek, Amanda Krzywdzińska-Rogowska, Barbara Remberk, Anna Bauer, Jolanta Sykut-Cegielska   +4 more
doaj   +1 more source

The Challenge of Diagnosis and Indication for Treatment in Fabry Disease

Journal of Inborn Errors of Metabolism and Screening, 2017
Fabry disease, caused by deficient alpha-galactosidase A lysosomal enzyme activity, remains challenging to health-care professionals. Laboratory diagnosis in males is carried out by determination of alpha-galactosidase A activity; for females, enzymatic ...
Marco A. Curiati MD, Carolina S. Aranda MD, MSc, Sandra O. Kyosen MD, MSc, Patricia Varela MSc, Vanessa G. Pereira PhD, Vania D’Almeida PhD, João B. Pesquero PhD, Ana M. Martins MD, PhD   +7 more
doaj   +1 more source

Neonatal‐onset developmental and epileptic encephalopathy: High genetic yield and long‐term outcomes in a multicenter southern European cohort

Epilepsia Open, EarlyView.
Abstract Objective To determine the genetic diagnostic yield, characterize the clinical and genetic landscape, and evaluate long‐term epilepsy, neurodevelopmental, and survival outcomes in a strictly defined cohort of neonatal‐onset developmental and epileptic encephalopathy (DEE).
Júlia Sala‐Coromina, Anna Marcé‐Grau, Gianluca D'Onofrio, Antonella Riva, Roser Pons, Elisabeta Kollia E, Miquel Raspall‐Chaure, Eduardo López‐Laso, Javier López‐Pisón, Edgard Verdura, Agatha Schlüter, Dolors Casellas‐Vidal, Maria Camós‐Carreras, Michele Iacomino, Alberto Spalice, Pasquale Parisi, Alejandro Martínez de la Ossa‐Vela, Mónica Vicente‐Rasoamalala, Aurora Pujol, Vincenzo Salpietro, Pasquale Striano, Alfons Macaya   +21 more
wiley   +1 more source

Engineering an artificial trachea: Quantitative benchmarks and modular strategies for mechanics, epithelialization, and vascular integration

FlexMat, EarlyView.
In this work, we first examine the limitations of surgical repair and stenting, including migration, granulation, mucus plugging, and infection. We then translate these failures into engineering constraints involving geometry, mechanics, fixation, degradation, junctional stress, and remodeling.
Yiwei Xu, Hanqing Dai, Qianwang Ye, Wanlu Zhang, Na Wang, Lei Xiong, Ruiqian Guo   +6 more
wiley   +1 more source